EponymVon Recklinghausen's neurofibromatosis: neurofibromatosis type 1
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Von Recklinghausen's neurofibromatosis (neurofibromatosis type 1)
The neurofibromatoses are autosomal dominant disorders of which there are two distinct forms, neurofibromatosis type 1 (von Recklinghausen's neurofibromatosis) and neurofibromatosis type 2.1, 2 Almost one in every 2500 babies born in the UK has neurofibromatosis type 1—an overall incidence of one in 3000 to one in 4000. The disorder has almost 100% penetrance but variable expression—ie, there can be large variation in the clinical manifestations within a family. Furthermore, 50% of cases are
Recent advances
There have been great advances in the understanding of the biology of neurofibromatosis type 1. Although molecular genetic testing is feasible, the large size of the gene and the wide range of mutations mean that a suitable clinical diagnostic test has not been developed. Neurofibromin, the NF1 gene product, is homologous with the RAS/GTPase activating protein (GAP). RASA-1 increases the rate of intrinsic GTP hydrolysis in RAS, a membrane associated protein and its effector system, mediating
Neurofibromatosis type 2
Neurofibromatosis type 2 is much less frequent than neurofibromatosis type 1, with a birth incidence of between one in 33 000–40 000, and prevalence within the population is one in 210 000. This disorder is also inherited in an autosomal dominant manner, with up to 50% of cases being sporadic gene mutations. The NF2 gene is located on chromosome 22q12.1, spans 110 kb of genomic DNA, and encodes a cytoskeletal protein, merlin, or schwannomin, which acts as a tumour suppressor. The main
Friedrich von Recklinghausen, 1833–1910
Friedrich Daniel von Recklinghausen (figure 2) was born in Gütersloh, Westphalia, Germany and studied medicine at the Universities of Bonn, Würzburg, and Berlin, gaining a doctor's degree and defending his inaugural thesis on the theories of pyaemia, prepared in Latin, in 1855. After graduation he remained in Berlin, studying pathological anatomy with Virchow, and undertaking study and research in Vienna, Rome, and Paris.4 He was an expert in embryology and stages of tissue maturation and was
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Neurofibromatosis: clinical presentations and anaesthetic implications
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(2001) Diagnosis and management of neurofibromatosis type 1
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Cited by (158)
Neurofibromatosis type 1 and pulmonary arterial hypertension: A case report
2022, Revista Portuguesa de CardiologiaEarly presentation of neurofibromatosis type I patient with clitoromegaly and café au lait spots: A case report
2022, Radiology Case ReportsCitation Excerpt :There are three types of neurofibromatosis: type I (NF1), type II (NF2), and Schwannomatosis. NF1, which was previously known as von Recklinghausen disease, is an autosomal dominant genetic disorder with multisystem involvement; it is the most common type of neurofibromatosis with an incidence of approximately 1 in 2,600-3,000 individuals [1]. Clinical manifestation of NF1 includes café au lait lesions, axillary or inguinal freckling, Lisch nodules, neurofibromas, and bone abnormalities.
Solitary and complicated neurofibroma of small Bowel: A case report
2021, International Journal of Surgery Case ReportsPulmonary arterial hypertension: A rare yet fatal complication of Neurofibromatosis Type 1
2019, Respiratory Medicine Case ReportsCitation Excerpt :NF1 is an autosomal dominant condition with approximately 100% penetrance [3]. This disorder has variable expressivity regarding its clinical manifestations, with approximately 50% of NF1 cases being sporadic mutations [7,8]. Arterial vasculopathies can also arise in NF1, however the pathogenesis and frequency of this particular severe manifestation remain largely unknown [9].